ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4048= (p.Lys1350=) (rs4826245)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078036 SCV000109874 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078036 SCV000246728 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715235 SCV000846063 benign History of neurodevelopmental disorder 2015-06-22 criteria provided, single submitter clinical testing
Mendelics RCV000990884 SCV001141937 benign Menkes kinky-hair syndrome 2019-05-28 criteria provided, single submitter clinical testing

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